DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for glycogen storage disease XV — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleGlycogen storage disease XV maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for glycogen storage disease xv is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
glycogenin 1 (GYG1) — GYG1 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet g6pdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7Q13 · 3.0 Å · ligand 6-O-phosphono-alpha-D-glucopyranose (G6P). Experimental structure, not a prediction.
What the evidence adds up to
A 1965 Swedish survey attempted to trace all known or suspected cases of glycogen storage disease in the country. It discussed 35 cases; 20 were studied with biochemical and enzymic methods, and in 3 additional patients the diagnosis could be evaluated because a sibling with similar symptoms was investigated. Nine patients were dead without any material having been saved, and three patients still alive could not be re-examined. Of the 13 patients found with definite or highly probable glycogenosis, 8 belonged to type 1, 1 tentatively to type 2, 1 tentatively to type 3, and 2 to type 6. In 10 cases studied, it was possible to exclude the suspected type or all known types. The minimum incidence of all types of glycogen storage disease in Sweden was calculated as 1 per 246,000 live births.
A 2025 case report describes glycogen storage disease type Ia, an autosomal recessive disorder caused by a mutation in the G6PC gene, characterised by excessive glycogen accumulation in the liver, kidneys and intestinal mucosa. The clinical presentation includes hepatomegaly, hypoglycaemia, hyperlactataemia, growth delay, a typical “doll-like” face, hyperlipidaemia, and hyperuricaemia. The report presents a single case in which hypoglycaemia was considered as floppy infant syndrome. No other patients or quantitative outcomes such as survival or response rates are given.
A 2024 supplemental document for a mixed-methods study on glycogen storage disease type III is listed but no data from it is provided in the abstracts. The 1965 survey is the only source offering any incidence figure, and it is now sixty years old. The 2025 case report adds no new therapeutic data.
What is missing is any controlled trial of a drug for glycogen storage disease type XV specifically. No abstract mentions that subtype at all. There is no evidence of patient stratification, no funding for a repurposing study, and no trial design that could test a candidate drug in this population.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Sage Journals Data · 2024 · 0 citations · open access
sj-docx-1-tae-10.1177_20420188231224233 – Supplemental material for Glycogen storage disease type III: a mixed-methods study to assess the burden of disease
AbstractSupplemental material, sj-docx-1-tae-10.1177_20420188231224233 for Glycogen storage disease type III: a mixed-methods study to assess the burden of disease by Ayla Evins, Jill Mayhew, Tricia Cimms, Julie Whyte, Kathy Vong, Elizabeth Hribal, Christopher J. Evans and Andrew Grimm in Therapeutic Advances in Endocrinology and Metabolism
AbstractSUMMARY An attempt was made to trace all known or suspected cases of glycogen storage disease in Sweden. 1. Totally 35 such cases are discussed; 20 of them could be studied with biochemical and enzymic methods. In an additional 3 patients the diagnosis could be evaluated, since a sib with similar symptoms was investigated. Nine patients were dead without any material having been saved. In three patients, still alive, no new examination could be made. 2. Seven of the patients studied were considered to have a definite glycogen storage disease. In 6 of the cases not studied by the author, glycogenosis was considered to be proved by other investigators. Of the 13 patients thus found with definite or highly probable glycogenosis, 8 belonged to type 1 glycogenosis (in 3 cases the type diagnosis is only tentative), 1 (tentatively) to type 2, 1 (tentatively) to type 3 and 2 (1 proved, 1 tentatively) to type 6. In one case no type diagnosis is suggested. 1 The criteria for the diagnosis in these 13 cases are discussed. 3. In 10 cases studied, it was considered possible to exclude the suspected type or all known types of glycogen storage disease. 4. The minimum incidence of known cases of all types of glycogen storage disease in Sweden is calculated to be 1: 246,000 live births. 5. The various current diagnostic possibilities are discussed, and the value of clinical, clinical‐chemical, histological, biochemical and enzymic procedures is surveyed. The advantages and drawbacks of modern diagnostic assays on corpuscular elements of the blood are described. It is stressed that these new methods have not made unnecessary the utilization of other diagnostic procedures.
Floppy infant syndrome in glycogen storage disease type Ia in a patient in the first year of life
AbstractGlycogen storage disease type Ia is an autosomal recessive disorder caused by a mutation in the G6PC gene. It is characterized by excessive glycogen accumulation in the liver, kidneys and intestinal mucosa. The clinical presentation of glycogen storage disease type Ia includes hepatomegaly, hypoglycemia, hyperlactatemia, growth delay, a typical “doll-like” face, hyperlipidemia, and hyperuricemia. This article presents a clinical case of glycogen storage disease type Ia with hypoglycemia, considered as floppy infant syndrome. Key words: glycogen storage disease type Ia, glycogenosis type Ia, hepatomegaly, hypoglycemia, diet therapy, floppy infant syndrome
Glycogen storage disease due to glycogen debranching enzyme deficiency
AbstractOpe n Pe e r Re v ie w on Qe ios Ope n Pe e r Re v ie w on Qe ios Glycogen storage disease due to glycogen debranching enzyme deficiency INSERM Source INSERM.(1999).Orphanet: an online rare disease and orphan drug data base.Glycogen storage disease due to glycogen debranching enzyme deficiency.ORPHA:366 Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
